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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CLINT1 Gene

protein-coding   GIFtS: 57
GCID: GC05M157212

clathrin interactor 1
 Explore 3 diseases affiliated with
CLINT1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CLINT1    

Aliases
for CLINT1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Clathrin Interactor 11 2     Enthoprotin3
EPNR1 2 3 5     Epsin 42
ENTH1 2 3     EpsinR3
KIAA01711 3 5     Clint3
EPN42 3 5     Enthoprotin3
CLINT1 2     Epsin-43
Epsin-Related Protein2 3     EpsinR3
Clathrin Interacting Protein Localized In The Trans-Golgi Region2     Clathrin-Interacting Protein Localized In The Trans-Golgi Region3

External Ids:    HGNC: 231861   Entrez Gene: 96852   Ensembl: ENSG000001132827   OMIM: 6072655   UniProtKB: Q146773   

Export aliases for CLINT1 gene to outside databases

Previous GC identifers: GC05M157146 GC05M152305


Summaries
for CLINT1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CLINT1:
This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein
interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation
of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are
associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple
transcript variants. (provided by RefSeq, Sep 2010)

UniProtKB/Swiss-Prot: EPN4_HUMAN, Q14677
Function: Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May have a role in
transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly

Gene Wiki entry for CLINT1


Genomic Views
for CLINT1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_023133.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CLINT1 gene promoter:
         AML1a   AP-2alpha isoform 3   Nkx2-5   AP-2alpha isoform 2   E4BP4   GATA-6   FOXO4   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CLINT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CLINT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLINT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q33.3   Ensembl cytogenetic band:  5q33.3   HGNC cytogenetic band: 5q33.3

CLINT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLINT1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M157212:  view genomic region     (about GC identifiers)

Start:
 157,212,751 bp from pter      End:
 157,286,183 bp from pter
Size:
 73,433 bases      Orientation:
 minus strand

Proteins
for CLINT1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: EPN4_HUMAN, Q14677 (See protein sequence)
Recommended Name: Clathrin interactor 1  
Size: 625 amino acids; 68259 Da
Subunit: Binds clathrin heavy chain, GGA2, AP-2 and AP1G1
Subcellular location: Cytoplasm. Cytoplasm, perinuclear region. Membrane; Peripheral membrane protein. Cytoplasmic
vesicle, clathrin-coated vesicle. Note=Found throughout the cell, with the exception of the cell surface. Concentrated
in the perinuclear region and associated with clathrin-coated vesicles close to the trans-Golgi network
Sequence caution: Sequence=BAA11488.2; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for CLINT1:
1XGW (3D)        2QY7 (3D)        2V8S (3D)    
Secondary accessions: B7Z6F8 D3DQJ6 Q8NAF1 Q96E05
Alternative splicing: 3 isoforms:  Q14677-1   Q14677-2   Q14677-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CLINT1: NX_Q14677

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14677

    • CLINT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001182484.1  NP_001182485.1  NP_055481.1  

    ENSEMBL proteins: 
     ENSP00000429345   ENSP00000433419   ENSP00000388340   ENSP00000429824   ENSP00000434334  
     ENSP00000431858   ENSP00000433013   ENSP00000296951  
    Reactome Protein details: Q14677
    Human Recombinant Protein Products: 
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    Novus Biologicals CLINT1 Proteins
    Novus Biologicals CLINT1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CLINT1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IDA10942595
    GO:0005829cytosol TAS--
    GO:0016020membrane IEA--
    GO:0030136clathrin-coated vesicle IEA--
    GO:0048471perinuclear region of cytoplasm IEA--


    CLINT1 for ontologies           About GeneDecksing



    CLINT1 Antibody Products: 
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    Uscn Antibodies for CLINT1
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    Assay Products for CLINT1: 
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    Uscn ELISAs and CLIAs for CLINT1

    Protein Domains /
    Families
    for CLINT1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CLINT1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001026 Epsin_dom_N
     IPR008942 ENTH_VHS
     IPR013809 Epsin-like_N

    Graphical View of Domain Structure for InterPro Entry Q14677

    ProtoNet protein and cluster: Q14677

    2 Blocks protein families:
    IPB001026 Epsin N-terminal homology
    IPB013809 Epsin-like


    UniProtKB/Swiss-Prot: EPN4_HUMAN, Q14677
    Similarity: Belongs to the epsin family
    Similarity: Contains 1 ENTH (epsin N-terminal homology) domain


    Function
    for CLINT1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: EPN4_HUMAN, Q14677
    Function: Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May have a role in
    transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly

    miRNA
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    hsa-mir-145 (MIRT000678)

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CLINT1
    8/37 QIAGEN miScript miRNA Assays for microRNAs that regulate CLINT1 (see all 37):
    hsa-miR-4291 hsa-miR-26a-2* hsa-miR-488 hsa-miR-548l hsa-miR-34b hsa-miR-3163 hsa-miR-433 hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmid: CLINT1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLINT1 (see all 7)
    OriGene shRNA RFP: CLINT1
    OriGene siRNA: CLINT1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CLINT1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CLINT1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CLINT1 (see all 4)
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    Browse Sino Biological Human cDNA Clones
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    Search LifeMap BioReagents cell lines for CLINT1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLINT1

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12429846
    GO:0008289lipid binding IEA--
    GO:0030276clathrin binding IPI12429846


    CLINT1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CLINT1:
     Increased gamma-H2AX phosphory 


    Pathways & Interactions
    for CLINT1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Clathrin derived vesicle budding
    		trans-Golgi Network Vesicle Budding1.00
    		Golgi Associated Vesicle Biogenesis0.89
    		Clathrin derived vesicle budding1.00
    2Membrane Trafficking
    		Membrane Trafficking1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for CLINT1
        Membrane Trafficking
    Clathrin derived vesicle budding
    Golgi Associated Vesicle Biogenesis
    trans-Golgi Network Vesicle Budding



    CLINT1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CLINT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/572 Interacting proteins for CLINT1 (Q146771, 2, 3 ENSP000003883404) via UniProtKB, MINT, STRING, and/or I2D (see all 572)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPL1Q9H0R81, 3EBI-1171113,EBI-3240381 I2D: score=3 
    MAP1LC3BQ9GZQ81, 3EBI-1171113,EBI-373144 I2D: score=3 
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0006897endocytosis IEA--
    GO:0016044cellular membrane organization TAS--


    CLINT1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CLINT1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CLINT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CLINT1
    2 Novoseek chemical compound relationships for CLINT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoinositide 43.8 3 14993348 (1), 19160662 (1)
    lipid 0 2 17825837 (1), 15869386 (1)

    Search CenterWatch for drugs/clinical trials and news about CLINT1 / EPN4 

    Transcripts
    for CLINT1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CLINT1 gene (3 alternative transcripts): 
    NM_001195555.1  NM_001195556.1  NM_014666.3  

    Unigene Cluster for CLINT1:

    Clathrin interactor 1
    Hs.644000  [show with all ESTs]
    Unigene Representative Sequence: NM_001195555
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000523094(uc003lxi.2 uc011ddv.2 uc003lxj.2) ENST00000524306(uc003lxg.2)
    ENST00000530742 ENST00000411809 ENST00000518855(uc003lxh.2) ENST00000523908
    ENST00000522381 ENST00000521047 ENST00000530302 ENST00000521615 ENST00000296951


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CLINT1
    8/37 QIAGEN miScript miRNA Assays for microRNAs that regulate CLINT1 (see all 37):
    hsa-miR-4291 hsa-miR-26a-2* hsa-miR-488 hsa-miR-548l hsa-miR-34b hsa-miR-3163 hsa-miR-433 hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmid: CLINT1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLINT1 (see all 7)
    OriGene shRNA RFP: CLINT1
    OriGene siRNA: CLINT1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CLINT1
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CLINT1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CLINT1

    Additional cDNA sequence: 

    AF434813.1 AK092765.1 AK128594.1 AK300257.1 BC004467.2 BC013091.1 D79993.1 

    14 DOTS entries:

    DT.217756  DT.100036624  DT.100731054  DT.97823805  DT.91695125  DT.100842007  DT.95150685  DT.91761005 
    DT.91761014  DT.100842003  DT.100842006  DT.91761008  DT.95150696  DT.102825244 

    24/339 AceView cDNA sequences (see all 339):

    AI479270 BQ923982 D79993 AL708650 AA642256 AL601596 AA029002 AI277919 
    AA365922 AI623384 NM_014666 BC013091 F05810 CD369889 BU676840 BQ000288 
    CA394105 CB161361 CA776629 BM127034 BQ425706 BC030264 BF668588 AA280281 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CLINT1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e
    SP1:              -                                                                                   -     -                 -                           
    SP2:                                                                                                  -     -     -           -                           
    SP3:                                                                                                                                                      
    SP4:                                                                                                  -           -           -                           
    SP5:                                                                          -                                                                           


    ECgene alternative splicing isoforms for CLINT1

    Expression
    for CLINT1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CLINT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CLINT1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    BoneEndochondral Facial BonesBone
    BoneThoracic RibBone
    Gut TubeMidgutGut Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CLINT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLINT1

    SOURCE GeneReport for Unigene cluster: Hs.644000

    UniProtKB/Swiss-Prot: EPN4_HUMAN, Q14677
    Tissue specificity: Ubiquitously expressed at low to intermediate levels

        SABiosciences Custom PCR Arrays for CLINT1
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLINT1

    Orthologs
    for CLINT1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CLINT1 gene from 10/31 species (see all 31)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Clint11 , 5 clathrin interactor 11, 5 89.99(n)1
    94.7(a)1    		   11 (27.45 cM)5
    2167051  NM_001045520.31  NP_001038985.21 
     458520515 
    chicken
    (Gallus gallus)    		 Aves CLINT11 clathrin interactor 1 81.8(n)
    84.09(a)    		   416240  NM_001030615.1  NP_001025786.1 
    lizard
    (Anolis carolinensis)    		 Reptilia CLINT16
    		 --
    		 73(a)
    		 1 ↔ 1
    		 GL343205.1(2931131-2971828)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.14402 Xenopus laevis transcribed sequence with moderate similarity more 85.38(n)    BG553156.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufa05f052 wufa05f05 74.34(n)   334863  57044700 
    fruit fly
    (Drosophila melanogaster)    		 Insecta lqfR1 liquid facets-Related 50.65(n)
    48.47(a)    		   42632  NM_170009.3  NP_732734.3 
    worm
    (Caenorhabditis elegans)    		 Secernentea rsd-31 Protein RSD-3 48.26(n)
    38.5(a)    		   181358  NM_077572.4  NP_509973.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes ENT31 Ent3p 45.44(n)
    34.58(a)    		   853589   NP_012659.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G117101 clathrin interactor EPSIN 1 46.33(n)
    36.34(a)    		   831043  NM_121209.5  NP_196732.2 
    rice
    (Oryza sativa)    		 Liliopsida Os04g05999001 hypothetical protein 44.62(n)
    30.88(a)    		   4336871  NM_001060290.1  NP_001053755.1 


    ENSEMBL Gene Tree for CLINT1 (if available)
    TreeFam Gene Tree for CLINT1 (if available) 

    Paralogs
    for CLINT1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CLINT1 gene
    EPN12  EPN22  EPN32  ENTHD12  

    CLINT1 for paralogs           About GeneDecksing



    Genomic Variants
    for CLINT1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: EPN4_HUMAN, Q14677
    Polymorphism: Genetic variations in CLINT1 may contribute to susceptibility to schizophrenia and psychotic disorders in
    some populations


    10/1233 NCBI SNPs in CLINT1 are shown (see all 1233)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1126614551,2
    		--152304683(+) TTGCTG/CGAACA 3 -- ds50011Minor allele frequency- C:0.50CSA 2
    rs800627031,2
    		F,--152306795(+) TGAAGT/CGCTCT 3 -- ut311Minor allele frequency- C:0.03WA 118
    rs111349581,2
    		C,A,H,--152308248(+) agtgaA/Gctgag 3 -- int12Minor allele frequency- G:0.33CSA 3
    rs1122536451,2
    		C,--152309365(+) CCCCAG/TCTCTA 3 -- int11Minor allele frequency- T:0.50WA 2
    rs1131898811,2
    		F,--152309522(+) AGAGCG/CAGACT 3 -- int12Minor allele frequency- C:0.50CSA 4
    rs284050201,2
    		--152310420(+) CGGAGC/TATCAC 3 -- int10--------
    rs1121828481,2
    		F,--152310701(+) TCTTTT/CTCTTA 3 -- int13Minor allele frequency- C:0.06CSA WA 122
    rs1813049951,2
    		C,--152310910(+) ACACAA/CAGACA 3 -- int10--------
    rs119500961,2
    		C,F,H,--152311976(+) GGACCA/GTTTAT 3 -- int16Minor allele frequency- G:0.07NS EA WA 540
    rs563448221,2
    		C,F,--152312283(+) CATTCC/TATGTT 3 -- int11Minor allele frequency- T:0.15NA 120

    HapMap Linkage Disequilibrium report for CLINT1 (157212751 - 157286183 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CLINT1
         1 CNV: 3583

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    Disorders / Diseases
    for CLINT1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CLINT1 for disorders           About GeneDecksing

    OMIM gene information: 607265    OMIM disorders: --

    3 diseases for CLINT1:    About MalaCards
    psychotic disorder    schizophrenia    bipolar disorder

    1 disease from the University of Copenhagen DISEASES database for CLINT1:
    Schizophrenia

    1 Novoseek disease relationship for CLINT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 39.2 18 16402136 (4), 16616458 (4), 18696005 (3), 18929466 (2) (see all 6)

    Human Genome Epidemiology (HuGE) Navigator: CLINT1 (6 documents)

    Export disorders for CLINT1 gene to outside databases

    Publications
    for CLINT1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CLINT1 gene, integrated from 9 sources (see all 69):
    (articles sorted by number of sources associating them with CLINT1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Enthoprotin: a novel clathrin-associated protein identified through subcellular proteomics. (PubMed id 12213833)1, 2, 3, 9 Wasiak S....McPherson P.S. (2002)
    2. Clint: a novel clathrin-binding ENTH-domain protein at the Golgi. (PubMed id 12429846)1, 2, 3 Kalthoff C.... Ungewickell E.J. (2002)
    3. EpsinR: an AP1/clathrin interacting protein involved in vesicle trafficking. (PubMed id 12538641)1, 2, 9 Mills I.G.... McMahon H.T. (2003)
    4. The Epsin 4 gene on chromosome 5q, which encodes the clathrin- associated protein enthoprotin, is involved in the genetic susceptibility to schizophrenia. (PubMed id 15793701)1, 2, 9 Pimm J.... Gurling H. (2005)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 8724849)1, 2 Nagase T.... Nomura N. (1996)
    9. Failure to confirm an association between Epsin 4 and schizophrenia in a Japanese population. (PubMed id 18696005)1, 9 Richards M....Kunugi H. (2008)
    10. Family-based association study of Epsin 4 and Schizophrenia. (PubMed id 16402136)1, 9 Tang R.Q....He L. (2006)

    External Searches for CLINT1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CLINT1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9685 HGNC: 23186 AceView: ENTH Ensembl:ENSG00000113282 euGenes: HUgn9685
    ECgene: CLINT1 H-InvDB: CLINT1

    Other Databases showing CLINT1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0171

    Specialized Databases showing CLINT1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CLINT1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CLINT1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CLINT1 gene:
    Search GeneIP for patents involving CLINT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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